The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

ABSTRACT:

Purpose

Using exome sequence data from 159 families participating in the National Institutes of Health Undiagnosed Diseases Program, we evaluated the number and inheritance mode of reportable incidental sequence variants.

Methods

Following the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings from next-generation sequencing, we extracted variants in 56 genes from the exome sequence data of 543 subjects and determined the reportable incidental findings for each participant. We also defined variant status as inherited or de novo for those with available parental sequence data.

Results

We identified 14 independent reportable variants in 159 (8.8%) families. For nine families with parental sequence data in our cohort, a

SUBMITTER: Lawrence L 

PROVIDER: S-EPMC4190001 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature